Villegas MD specializes in the diagnosis and treatment of all tumors involving the eye in San Juan, Puerto Rico. Ocular tumors can affect children and adults. Tumors may occur in one or both eyes. Prompt diagnosis is paramount to establishing an individualized treatment plan and achieving optimal long-term outcomes. We offer highly specialized testing to diagnose and manage ocular tumors. Our primary goal is to preserve life while optimizing the visual outcome of our patients.
Retinoblastoma (RB) is a rare form of cancer that arises from the retinal photoreceptor cells. The disease affects one of every 15,000 children born. In the United States, around 300 cases are diagnosed each year.
Retinoblastoma can be familial (germline) and non-familial (somatic). Most cases of retinoblastoma occur because of spontaneous mutations that arise during embryogenesis or gametogenesis. Therefore, most children do not have a family history of retinoblastoma. In about 6-10 % of cases, there is a positive family history. Children with multiple tumors have the familial form (germline) of the disease and are at risk of developing secondary cancers. All children with germline retinoblastoma need a systemic workup and genetic counseling.
Retinoblastoma mostly affects children less than 5 years of age. Most children are diagnosed late in the disease process because of the lack of symptoms. The mean age at diagnosis in hereditary retinoblastoma is 11 months of age. The mean age at diagnosis in non-hereditary retinoblastoma is around 24 months of age. The most common physical exam findings at diagnosis is leukocoria. Strabismus secondary to central visual loss is the second most common sign at initial presentation.
Leukocoria is when the usual red pupillary reflex seen in photographs is white instead of red. However, in early disease, the red reflex may still be normal. Although retinoblastoma is the most concerning of all causes of leukocoria, other conditions such as Persistent hyperplastic primary vitreous (PHPV), Coat's disease, Toxocara Canis, Retinopathy of prematurity (ROP), Familial exudative vitreoretinopathy (FEVR), Cataracts, and Medulloepithelioma may also develop leukocoria.
Early diagnosis and treatment is the most important limitation associated with morbidity and mortality. Globe-sparing treatments have replaced primary enucleation in the management of this rare condition mostly because new diagnostic and therapeutic options are available at tertiary centers that have allowed improved anatomical and visual outcomes in the most advanced stages. External beam radiation therapy was used prior to newer chemo reduction strategies. Several advanced chemotherapeutic treatments are currently available, including selective-intra-arterial, periocular, systemic, and intravitreal in combination with focal laser ablation.
Villegas MD offers the most highly specialized testing available to diagnose and manage ocular tumors. As an ocular oncologist, our primary goal is to preserve life while optimizing the visual outcome of our patients.
Choroidal melanoma is the most common primary intraocular (inside the eye) malignant tumor in adults. Choroidal melanoma may spread from the eye to other parts of the body. Most cases of choroidal melanoma do not produce any symptoms until the advanced disease is present. Similar to other malignancies, the best outcomes are associated with early detection and definitive treatment.
Historically, cases with choroidal melanoma underwent enucleation (removal of the eye). The Collaborative Ocular Melanoma Study (COMS), supported by the National Eye Institute of the National Institutes of Health, concluded that brachytherapy was equally effective to enucleation in preventing the risk of metastasis (spread of cancer) in cases of medium-sized choroidal melanoma. Currently, patients with choroidal melanoma are treated based on tumor size. Small tumors may be observed. Medium and large choroidal melanomas may undergo brachytherapy or enucleation.
Villegas MD offers the most highly specialized testing available to diagnose and manage ocular tumors. As an ocular oncologist, our primary goal is to preserve life while optimizing the visual outcome of our patients.
Similar to a skin freckle, choroidal nevi are benign pigmented lesions that occur inside the eye at the level of the choroid. Some choroidal nevi, especially small lesions, are difficult to distinguish from small choroidal melanomas. Evaluation by an ocular oncologist is important to determine the risk for cancer development. In most cases, observation is the main management.
Tumors can arise from the iris or behind it. Most lesions in this area are benign cysts or nevi. Although rare, malignant melanomas that arise from this anatomic location are usually asymptomatic and tend to be advanced at the time of diagnosis due to the challenges associated with the visualization of the tumor. Multimodal imaging techniques such as slit lamp photography, anterior segment optical coherence tomography, and ultrasound biomicroscopy allow us to precisely diagnose and manage tumors from the iris or ciliary body.
Intraocular/choroidal metastasis is when cancer spreads from another organ in the body to the inside of the eye. The most common cause of intraocular metastasis in men is lung cancer. The most common cause of intraocular metastasis in women is breast cancer. Lymphoma and leukemia can also spread to the eye. It is important to manage cases with intraocular metastasis with a multidisciplinary team that includes an ocular oncologist, medical oncologist, and/or a radiation oncologist. Therapeutic options vary depending on cancer type and stage. External beam radiation, intraocular chemotherapy, systemic chemotherapy, and/or enucleation may be needed to manage complex cases.
The most common type of lymphoma that affects the eye is large cell non-Hodgkin's lymphoma. The two major risk factors are increasing age and compromised immune systems. The symptoms may appear in the eye years before the systemic disease is present. Gadolinium enhanced MRI of the brain is necessary for initial systemic evaluation. Treatment may include systemic chemotherapy, intravitreal chemotherapy, and/or external beam radiation.
Choroidal hemangiomas are benign tumors that are comprised of blood vessels within the choroid. Oftentimes, choroidal hemangiomas may be confused with choroidal melanomas. However, most choroidal hemangiomas can be observed and do not need any treatment. In rare cases, hemangiomas can be associated with leakage into the macula from the abnormal blood vessels and this may lead to permanent visual loss. Treatment options include photodynamic therapy, laser photocoagulation to decrease the amount of fluid leakage, or low doses of external beam radiation therapy.
This is a slow-growing tumor most commonly found on the surface of the optic nerve. Almost always melanocytosis follows a benign course. Malignant transformation is extremely rare. Observation is the mainstay of management. If malignant transformation occurs, enucleation may be considered.
